The Cyprus Institute of Neurology and Genetics (Dept of Biochemical Genetics)

Mission: The mission of the Biochemical Genetics department is to provide diagnostic testing and result interpretation of the highest quality and be of service to patients and families with inherited metabolic disorders in Cyprus and neighbouring countries. Objective: Biochemical Genetics department was established in 1990 with the goal of becoming the reference centre in Cyprus for the laboratory investigation of inherited metabolic disorders (IMD) or inborn errors of metabolism (IEM). IMD is a group of more than 1500 disorders, and although individually are rare, it is estimated that cumulatively they affect about one in every 500 newborns. Prompt diagnosis is crucial for the treatment and management of these disorders. The Biochemical Genetics department offers a wide spectrum of specialized biochemical tests for the laboratory investigation and monitoring of IMD. The most up-to-date technology is used including HPLC, GC/MS and LC-MS/MS. Moreover, the Biochemical Genetics department implementates several research projects, mainly focused on the epidemiology of IMD metabolic disorders in Cyprus and their characterization at the biochemical and molecular level.